Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects

Endocrinology, Diabetes & Metabolism Case Reports
Rossella MazzilliFernando Mazzilli

Abstract

We report the case of a 19-year-old boy, presenting several congenital malformations (facial dysmorphisms, cardiac and musculoskeletal abnormalities), mental retardation, recurrent respiratory infections during growth and delayed puberty. Although previously hospitalised in other medical centres, only psychological support had been recommended for this patient. In our department, genetic, biochemical/hormonal and ultrasound examinations were undertaken. The karyotype was 49,XXXXY, a rare aneuploidy with an incidence of 1/85 000-100 000, characterised by the presence of three extra X chromosomes in phenotypically male subjects. The hormonal/biochemical profile showed hypergonadotropic hypogonadism, insulin resistance and vitamin D deficiency. The patient was then treated with testosterone replacement therapy. After 12 months of treatment, we observed the normalisation of testosterone levels. There was also an increase in pubic hair growth, testicular volume and penis size, weight loss, homeostatic model assessment index reduction and the normalisation of vitamin D values. Moreover, the patient showed greater interaction with the social environment and context. In cases of plurimalformative syndrome, cognitive impairment, recurre...Continue Reading

References

Oct 22, 1960·Lancet·M FRACCAROJ LINDSTEN
Dec 17, 2005·Hormone Research·Hee Jin KimGilho Lee
Oct 10, 2009·Fetal Diagnosis and Therapy·P PeitsidisE Agapitos
Feb 24, 2011·Acta Paediatrica·Nicole TartagliaPhilip Zeitler
Jan 22, 2013·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Andrea Gropman, Carole A Samango-Sprouse
Jan 25, 2013·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Michael D KellerJordan S Orange
Jan 30, 2013·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Courtney SprouseCarole A Samango-Sprouse
Sep 18, 2013·The World Journal of Men's Health·Giovanni CoronaMario Maggi

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Citations

Apr 4, 2020·American Journal of Medical Genetics. Part a·Laura TosiCarole A Samango-Sprouse
Jul 15, 2020·American Journal of Medical Genetics. Part a·Andrea L GropmanCarole A Samango-Sprouse
Jul 30, 2020·Andrologia·Mohammad Bakri Hammami, Ahmed Elkhapery
Jul 30, 2020·American Journal of Medical Genetics. Part a·Carole A Samango-SprouseAndrea L Gropman

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